ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1437C>T (p.Ala479=)

gnomAD frequency: 0.00005  dbSNP: rs201800548
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000975860 SCV001123751 likely benign not provided 2024-01-29 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276545 SCV001462943 uncertain significance Autosomal recessive osteopetrosis 1 2020-03-10 no assertion criteria provided clinical testing

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